Cntnap1 MGI Mouse Gene Detail - MGI:1858201 - contactin associated protein-like 1

Symbol

Cntnap1
Name

contactin associated protein-like 1
Synonyms

Caspr, NCP1, Nrxn4, p190, paranodin, shm

Feature Type

protein coding gene
IDs

MGI:1858201
NCBI Gene: 53321
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:101065429-101081550 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 64.33 cM, cytoband D
Mapping Data

3 experiments

SNPs within 2kb

315 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1858201	protein coding gene	Chr11:101061349-101081550 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019185	protein coding gene	Chr11:103998213-104020547 (+)
A/J	MGP_AJ_G0019153	protein coding gene	Chr11:99632362-99653678 (+)
AKR/J	MGP_AKRJ_G0019122	protein coding gene	Chr11:102730142-102751819 (+)
BALB/cJ	MGP_BALBcJ_G0019127	protein coding gene	Chr11:100123568-100143879 (+)
C3H/HeJ	MGP_C3HHeJ_G0018936	protein coding gene	Chr11:102898413-102920669 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019576	protein coding gene	Chr11:107219286-107239474 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017202	protein coding gene	Chr11:97051535-97072039 (+)
CAST/EiJ	MGP_CASTEiJ_G0018490	protein coding gene	Chr11:103890035-103911508 (+)
CBA/J	MGP_CBAJ_G0018905	protein coding gene	Chr11:111679350-111699525 (+)
DBA/2J	MGP_DBA2J_G0019017	protein coding gene	Chr11:99163016-99183800 (+)
FVB/NJ	MGP_FVBNJ_G0019007	protein coding gene	Chr11:98709867-98730124 (+)
LP/J	MGP_LPJ_G0019086	protein coding gene	Chr11:104545174-104566957 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019038	protein coding gene	Chr11:111237064-111267323 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019614	protein coding gene	Chr11:103048317-103070681 (+)
PWK/PhJ	MGP_PWKPhJ_G0018253	protein coding gene	Chr11:100214784-100235595 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018045	protein coding gene	Chr11:102793800-102815867 (+)
WSB/EiJ	MGP_WSBEiJ_G0018539	protein coding gene	Chr11:103049029-103072866 (+)

Human Ortholog

CNTNAP1, contactin associated protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CNTNAP1, contactin associated protein 1
Synonyms

CASPR, CHN3, CNTNAP, NRXN4, P190
Links

HGNC:8011

NCBI Gene ID: 8506

neXtProt AC: NX_P78357

UniProt: P78357
Chr Location

17q21.2; chr17:42682531-42699993 (+) GRCh38

MGI Vertebrate Homology

Cntnap1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CNTNAP1
Gene Tree

Cntnap1

Diseases

1 with human CNTNAP1 associations

				Human Disease	Mouse Models
				lethal congenital contracture syndrome IDs lethal congenital contracture syndrome DOID:0060558 ICD10CM:Q68.8 OMIM:PS253310 ORDO:294965

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

40 phenotypes from 11 alleles in 9 genetic backgrounds
5 phenotypes from multigenic genotypes
53 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Chemically induced (ENU)

1
Endonuclease-mediated

3
Gene trapped

1
Radiation induced

1
Spontaneous

4
Targeted

8
Genomic Mutations

1 involving Cntnap1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

56 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia.

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All GO Annotations

43
GO References

20

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

714
Tissues

3
cDNA Data

11
Literature Summary

17

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cntnap1

ZFIN cntnap1

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All Sequences

42
RefSeq

13
UniProt

2
CCDS

CCDS25455.1

Ensembl

ENSMUSG00000017167 (Evidence)
NCBI Gene

53321

			Length	Strain/Species	Flank
genomic	53321	NCBI Gene Model \| MGI Sequence Detail	16122	C57BL/6J	± kb
transcript	NM_016782	RefSeq \| MGI Sequence Detail	5360	C57BL/6
polypeptide	O54991	UniProt \| EBI \| MGI Sequence Detail	1385	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005672 contactin-associated protein 1

(term hierarchy)
InterPro Domains

IPR000421 Coagulation factor 5/8 C-terminal domain

IPR013320 Concanavalin A-like lectin/glucanase domain superfamily

IPR000742 EGF-like domain

IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain

IPR036056 Fibrinogen-like, C-terminal

IPR008979 Galactose-binding-like domain superfamily

IPR001791 Laminin G domain

IPR050372 Neurexin-related cell adhesion and synaptic protein

IPR003585 Neurexin/syndecan/glycophorin C
GlyGen

O54991 18 sites, 18 N-linked glycans (13 sites), 1 O-linked glycan (1 site)

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All nucleic 11

cDNA 11

Microarray probesets 3

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MGD-MRK-14405, MGI:2144280, MGI:98298

Summaries

All 108

Developmental Gene Expression 17

Gene Ontology 20

Phenotypes 53
Earliest

J:5040 Green EL, Shambling, a neurological mutant of the mouse. J Hered. 1967 Mar-Apr;58(2):65-8
Latest

J:342323 Chang C, et al., Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits. Cell Rep. 2023 Oct 31;42(10):113274

TSS for Cntnap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr3674	Chr11:101067019-101067073 (+)	1,617 bp
Tssr105051	Chr11:101070920-101070927 (+)	5,495 bp
Tssr105052	Chr11:101072155-101072204 (+)	6,751 bp
Tssr105053	Chr11:101079100-101079129 (+)	13,686 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24